Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Brain

Volumn 137, Issue 2, 2014, Pages 366-379

  Baker, Peter R ^a   Friederich, Marisa W ^a   Swanson, Michael A ^a   Shaikh, Tamim ^a   Bhattacharya, Kaustuv ^b   Scharer, Gunter H ^a   Aicher, Joseph ^a   Creadon Swindell, Geralyn ^a   Geiger, Elizabeth ^a   Maclean, Kenneth N ^a   Lee, Wang Tso ^c   Deshpande, Charu ^d   Freckmann, Mary Louise ^e   Shih, Ling Yu ^f   Wasserstein, Melissa ^g   Rasmussen, Malene B ^h   Lund, Allan M ^h   Procopis, Peter ⁱ   Cameron, Jessie M ^j   Robinson, Brian H ^j   Brown, Garry K ^k   Brown, Ruth M ^k   Compton, Alison G ^l   Dieckmann, Carol L ^m   Collard, Renata ^a   Coughlin, Curtis R ^a   Spector, Elaine ^a   Wempe, Michael F ⁿ   Van Hove, Johan L K ^a   more..

^a Children's Hospital Colorado   (United States)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^d GUY S HOSPITAL   (United Kingdom)

^e SYDNEY CHILDREN'S HOSPITAL   (Australia)

^f RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^g MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^h Rigshospitalet   (Denmark)

ⁱ UNIVERSITY OF SYDNEY   (Australia)

^j HOSPITAL FOR SICK CHILDREN   (Canada)

^k UNIVERSITY OF OXFORD   (United Kingdom)

^l ROYAL CHILDREN'S HOSPITAL   (Australia)

^m UNIVERSITY OF ARIZONA   (United States)

ⁿ UNIVERSITY OF COLORADO   (United States)

more..

Author keywords

iron sulphur cluster; leukodystrophy; lipoic acid; nonketotic hyperglycinemia

Indexed keywords

ANTICONVULSIVE AGENT; BOLA TYPE 3 PROTEIN; GLUTAREDOXIN; GLUTAREDOXIN 5; GLYCINE; GLYCINE CLEAVAGE SYSTEM; HYPERTONIC SOLUTION; IRON; IRON SULFUR PROTEIN; LAMOTRIGINE; MITOCHONDRIAL PROTEIN; PROTEIN; PYRUVATE DEHYDROGENASE; THIOCTIC ACID; TOPIRAMATE; UNCLASSIFIED DRUG;

ARTICLE; BLOOD CEREBROSPINAL FLUID BARRIER; BORDERLINE STATE; BRAIN DISEASE; CARDIOMYOPATHY; CEREBROSPINAL FLUID LEVEL; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DYSARTHRIA; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC TRANSFECTION; GROWTH, DEVELOPMENT AND AGING; HUMAN; HYPERGLYCINEMIA; IRON METABOLISM; LEIGH DISEASE; LEUKODYSTROPHY; LIPOYLATION; MALE; MEDICAL HISTORY; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; ONSET AGE; OPTIC NERVE ATROPHY; PATHOGENICITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SCHOOL CHILD; SPASTIC PARAPLEGIA; SPINAL CORD LESION;

IRON-SULPHUR CLUSTER; LEUKODYSTROPHY; LIPOIC ACID; NONKETOTIC HYPERGLYCINEMIA;

ATROPHY; CHILD; CHILD, PRESCHOOL; FATAL OUTCOME; FEMALE; GENETIC VARIATION; GLUTAREDOXINS; HUMANS; HYPERGLYCINEMIA, NONKETOTIC; INFANT; MALE; MUTATION; PROTEINS; SEVERITY OF ILLNESS INDEX; SULFURTRANSFERASES;

EID: 84893819382     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt328     Document Type: Article

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